303 research outputs found
Keratitis-ichthyosis-deafness syndrome, atypical connexin GJB2 genemutation, and peripheral T-cell lymphoma: more than a random association?
Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by a variety of skin lesionsâ that is, palmoplantar keratoderma, thickening of the skin, and erythematous verrucous lesionsâneurosensorial
hypoacusia, and keratitis with a variable degree of visual
impairment. Both sporadic and familial forms of the
syndrome have been described, the latter usually showing a
dominant pattern of inheritance. The molecular lesion
responsible for the syndrome typically involves the connexin
26 (Cx26) gene (GJB2). Most patients display the heterozygous c.148GâA mutation causing the substitution of an aspartic acid for an asparagine at position 50 (p.Asp50Asn), while a few of them show the c.50CâT mutation, implying the substitution of a serine for a phenylalanine at position 17 (p.Ser17Phe). However, even a mutation in the connexin 30 (Cx30) gene (GJB6) has been found in a typical KID patient, thus suggesting a genetic heterogeneity of the syndrome. As connexins are a large family of small integral membrane proteins which influence tissue cornification by modulating the establishment of direct cell-cell communication through gap junction channels, it is likely that defects involving this class of proteins are at the basis of the wellknown increased incidence of squamous cell carcinoma in KID patients
Correlation of Dry Deposition Velocity and Friction Velocity over Different Surfaces for PM2.5 and Particle Number Concentrations
Dry deposition of particles is an important way of aerosol removal from the atmosphere and a key process in surface-atmosphere exchanges. The deposition velocities, Vd, are often parameterised in air quality and climate modelling as function of the friction velocity, u*, atmospheric stability, and particle size (if size-segregated information is available). In this work, a study of the correlation between Vd and u* over different surfaces is presented for both PM2.5 and particle number fluxes. Results indicate an almost linear increase of Vd with u* with slopes similar for PM2.5 fluxes and particle number fluxes over the different surfaces analysed. This means that the ratios Vd/u* tend to collapse over similar values even if Vd and u* are significantly different because u* take into account most of the surface effects. There is a limited difference between stable cases and unstable/neutral cases with slightly lower deposition velocities in stable cases for fixed values of u*. The average value of Vd/u* is 0.010 ± 0.0017 (median 0.0062 ± 0.0015) (considering all stabilities) and 0.0097 ± 0.002 (median 0.005 ± 0.001) for stable cases. This could be the base for an empirical parameterisation of deposition velocities in air quality models
Coerenza, congruenza e affidabilità dei dati in un campione di enunciati nel dialetto di Roma
L'avancement des recherches en géoprosodie et le Project AMPER
Depuis 2001, l'Atlas MultimĂ©dia Prosodique de lâEspace Roman (AMPER) rĂ©unit des dizaines d'Ă©quipes de diffĂ©rents laboratoires d'Europe et d'AmĂ©rique qui visent Ă la description et Ă la comparaison des traits prosodiques des variĂ©tĂ©s linguistiques romanes.
C'est grĂące Ă la rencontre de plusieurs chercheurs (dialectologues, phonĂ©ticiens, sociolinguistes, philologues etc.) et Ă leur dĂ©cision d'accepter de partager un mĂȘme paradigme expĂ©rimental que les recherches en gĂ©oprosodie romane (souhaitĂ©es par Contini, 1992) ont commencĂ© Ă recevoir des contributions importantes avec un objectif commun et dans un cadre structurĂ©.
L'adhĂ©sion au projet, qui ne s'est pas fixĂ© une date limite pour la cloture des travaux, est ouverte aux contributions de tous les spĂ©cialistes du domaine. Ses dimensions et sa popularitĂ© dans certains secteurs de la recherche acadĂ©mique internationale, auxquelles a aussi contribuĂ© le Laboratori de fonĂštica de la UB, ont attirĂ© l'attention mĂȘme de chercheurs qui travaillent dans d'autres cadres thĂ©oriques.
Si les travaux en cours ne manquent pas de dĂ©tailler les particularitĂ©s locales dĂ©tectĂ©es dans des espaces rĂ©gionaux, une Ă©tude qui fasse le point sur la variabilitĂ© globale reste encore un objectif ambitieux. Nous essayons de rĂ©sumer ici quelques unes des rĂ©flexions prĂ©alables prĂ©sentĂ©es en d'autres occasions, de dresser un bilan sur l'Ă©tat des travaux et de discuter de nouvelles propositions pour le classement et l'Ă©valuation des donnĂ©es dĂ©jĂ disponibles.Since 2001, the Atlas MultimĂ©dia Prosodique de lâEspace Roman (AMPER) has glued several research teams from various laboratories, in Europe and America, aiming to give a description and a comparison of the prosodic features of Romance linguistic varieties.
Thanks to the participation of a number of researchers (dialectologists, phoneticians, sociolinguists, philologists and so on) and to their decision to share the same experimental paradigm, studies in Romance geoprosody (fostered by Contini, 1992) began to receive important contributions in view of a common target and within a structured framework.
The project does not have a deadline for its achievement and is open to contributions from all involved fields. Its dimensions and its popularity, to whom the Laboratori de fonĂštica de la UB contributed as well, in certain areas of the international academic research, drew the attention of researchers working within different theoretical frameworks.
Even though works in progress are highlighting local peculiarities in regional domains, a general review on global variability is still an ambitious aim. We summarise in this paper some preliminary reflections already presented elsewhere, in order to sketch a balance on the state of the art of the project and to discuss new ideas concerning both the classification and the evaluation of available data
Logica fuzzy e integrazione scolastica
ItSi mostra come la logica fuzzy puĂČ essere uno strumento adeguato per affrontare problemi complessi in campo sociale, come quello dellâintegrazione scolastica degli alunni stranieri. Si presenta lo studio di un caso in cui, in base ad una indagine svolta con interviste ad insegnanti, vengono elaborati i pesi fuzzy degli obiettivi particolari e delle variabili che rappresentano il fenomeno
New frontiers in time-domain diffuse optics, a review
The recent developments in time-domain diffuse optics that rely on physical concepts (e.g., time-gating and null distance) and advanced photonic components (e.g., vertical cavity source-emitting laser as light sources, single photon avalanche diode, and silicon photomultipliers as detectors, fast-gating circuits, and time-to-digital converters for acquisition) are focused. This study shows how these tools could lead on one hand to compact and wearable time-domain devices for point-of-care diagnostics down to the consumer level and on the other hand to powerful systems with exceptional depth penetration and sensitivity
The Treatment of Acute Diaphyseal Long-bones Fractures with Orthobiologics and Pharmacological Interventions for Bone Healing Enhancement: A Systematic Review of Clinical Evidence
The healing of long bones diaphyseal fractures can be often impaired and eventually end into delayed union and non-union. A number of therapeutic strategies have been proposed in combination with surgical treatment in order to enhance the healing process, such as scaffolds, growth factors, cell therapies and systemic pharmacological treatments. Our aim was to investigate the current evidence of bone healing enhancement of acute long bone diaphyseal fractures
Probe-hosted silicon photomultipliers for time-domain functional near-infrared spectrscopy: phantom and in vivo tests
We report the development of a compact probe for time-domain (TD) functional near-infrared spectroscopy
(fNIRS) based on a fast silicon photomultiplier (SiPM) that can be put directly in contact with the sample
without the need of optical fibers for light collection. We directly integrated an avalanche signal amplification
stage close to the SiPM, thus reducing the size of the detection channel and optimizing the signal immunity
to electromagnetic interferences. The whole detection electronics was placed in a plastic screw holder compatible
with the electroencephalography standard cap for measurement on brain or with custom probe holders. The
SiPM is inserted into a transparent and insulating resin to avoid the direct contact of the scalp with the 100-V bias
voltage. The probe was integrated in an instrument for TD fNIRS spectroscopy. The system was characterized
on tissue phantoms in terms of temporal resolution, responsivity, linearity, and capability to detect deep absorption
changes. Preliminary in vivo tests on adult volunteers were performed to monitor hemodynamic changes in
the arm during a cuff occlusion and in the brain cortex during a motor tas
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